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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: ferlazzo e. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.
Bovo G, Diani E, Bisulli F, Di Bonaventura C, Striano P, Gambardella A, Ferlazzo E, Egeo G, Mecarelli O, Elia M, Bianchi A, Bortoluzzi S, Vettori A, Aguglia U, Binelli S, De Falco A, Coppola G, Gobbi G, Sofia V, Striano S, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Bovo G, et al. Among authors: ferlazzo e. Neurosci Lett. 2008 May 2;436(1):23-6. doi: 10.1016/j.neulet.2008.02.045. Epub 2008 Mar 4. Neurosci Lett. 2008. PMID: 18355961
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.
Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, Bisulli F, Pinardi F, Binelli S, Egeo G, Castellotti B, Striano P, Striano S, Bianchi A, Ferlazzo E, Vianello V, Coppola G, Aguglia U, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Diani E, et al. Among authors: ferlazzo e. Epilepsy Res. 2008 Jul;80(1):1-8. doi: 10.1016/j.eplepsyres.2008.03.001. Epub 2008 Apr 28. Epilepsy Res. 2008. PMID: 18440780
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Møller RS, et al. Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7. Epilepsia. 2013. PMID: 23294455 Free article.
Management of juvenile myoclonic epilepsy.
Crespel A, Gelisse P, Reed RC, Ferlazzo E, Jerney J, Schmitz B, Genton P. Crespel A, et al. Among authors: ferlazzo e. Epilepsy Behav. 2013 Jul;28 Suppl 1:S81-6. doi: 10.1016/j.yebeh.2013.01.001. Epilepsy Behav. 2013. PMID: 23756489 Review.
211 results